Nucleic Acids Research, 2003, Vol. 31, No. 8 e42
© 2003 Oxford University Press
A functional analysis of disease-associated mutations in the androgen receptor gene
Stanford Medical Informatics, Department of Genetics, Stanford University, MSOB X-215, 251 Campus Drive, Stanford, CA 94305-5479, USA and 1 Lady Davis Institute for Medical Research, Sir Mortimer B. Davis Jewish General Hospital, Center for Translational Research in Cancer, McGill University, Montreal, Quebec H3T 1E2, Canada
*To whom correspondence should be addressed. Tel: +1 650 723 6979; Fax: +1 650 725 7944; Email: sdm{at}stanford.edu
Mutations in the androgen receptor (AR) are associated with a variety of diseases including androgen insensitivity syndrome and prostate cancer, but the way in which these mutations cause disease is poorly understood. We present a method for distinguishing likely disease-causing mutations from mutations that are merely associated with disease but have no causal role. Our method uses a measure of nucleotide conservation, and we find that conservation often correlates with severity of the clinical phenotype. Further, by only including mutations whose pathogenicity has been proven experimentally, this correlation is enhanced in the case of prostate cancer-associated mutations. Our method provides a means for assessing the significance of single nucleotide polymorphisms (SNPs) and cancer-associated mutations.
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